MacFeeters Hamilton Neuro-Oncology Program, Princess Margaret Cancer Centre, University Health Network and University of Toronto, Toronto, ON, Canada.
Division of Neurosurgery, Department of Surgery, The University of Toronto, Toronto, ON, Canada.
Adv Exp Med Biol. 2023;1416:137-158. doi: 10.1007/978-3-031-29750-2_11.
Despite being the most common primary brain tumor in adults, until recently, the genomics of meningiomas have remained quite understudied. In this chapter we will discuss the early cytogenetic and mutational changes uncovered in meningiomas, from the discovery of the loss of chromosome 22q and the neurofibromatosis-2 (NF2) gene to other non-NF2 driver mutations (KLF4, TRAF7, AKT1, SMO, etc.) discovered using next generation sequencing. We discuss each of these alterations in the context of their clinical significance and conclude the chapter by reviewing recent multiomic studies that have integrated our knowledge of these alterations together to develop novel molecular classifications for meningiomas.
尽管脑膜瘤是成人中最常见的原发性脑肿瘤,但直到最近,脑膜瘤的基因组学仍研究甚少。在本章中,我们将讨论脑膜瘤中早期发现的细胞遗传学和突变改变,从发现染色体 22q 的缺失和神经纤维瘤病 2 型 (NF2) 基因,到使用下一代测序发现的其他非 NF2 驱动突变 (KLF4、TRAF7、AKT1、SMO 等)。我们将在这些改变的临床意义背景下讨论每一个改变,并通过回顾最近的多组学研究来结束本章,这些研究将我们对这些改变的认识整合在一起,为脑膜瘤开发新的分子分类。